Tangier disease: study of the first case in Spain
Leal Luna, A.; Blanco Vaca, F.; Gómez Gerique, J.A.; Pérez Gallofré, A.; Franco Peral, M.; Fabiani Romero, F.
Medicina Clinica 93(8): 301-303
1989
ISSN/ISBN: 0025-7753 PMID: 2607835 Document Number: 331488
The clinical, biochemical and pathological studies of the first case of Tangier's disease that, to our knowledge, has been detected in Spain are reported. The patient had all the characteristic features of the disease: hypercholesterolemia with very pronounced reduction of plasmatic high density lipoproteins, splenomegaly, orange yellow tonsils and peripheral neuropathy. In addition, he had pneumonia and pancytopenia. Neurological examination and computed tomography suggested cerebral involvement, not previously reported in this condition. Biopsies demonstrated lipid accumulation in the reticuloendothelial cells of diverse localizations and in Schwann's cells.